96 results on '"Scholl-Buergi, Sabine"'
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2. Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study
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Elshorbagy, Amany, Lyons, Alexander R.M., Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Dharmayat, Kanika I., Brandts, Julia, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid F., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Ashavaid, Tester F., Banach, Maciej, Binder, Christoph J., Bourbon, Mafalda, Brunham, Liam R., Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Davletov, Kairat, Descamps, Olivier S., Ezhov, Marat, Gaita, Dan, Groselj, Urh, Harada-Shiba, Mariko, Holven, Kirsten B., Kayikcioglu, Meral, Khovidhunkit, Weerapan, Lalic, Katarina, Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lima-Martinez, Marcos M., Lin, Jie, Maher, Vincent, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nordestgaard, Børge G., Panayiotou, Andrie G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sadoh, Wilson E., Schunkert, Heribert, Shek, Aleksandr B., Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh-Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez, Alejandra C., Viigimaa, Margus, Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Arca, Marcello, Averna, Maurizio, Schreier, Laura, Pang, Jing, Ebenbichler, Christoph, Dieplinger, Hans, Innerhofer, Reinhold, Winhofer-Stöckl, Yvonne, Greber-Platzer, Susanne, Krychtiuk, Konstantin, Speidl, Walter, Toplak, Hermann, Widhalm, Kurt, Stulnig, Thomas, Huber, Kurt, Höllerl, Florian, Rega-Kaun, Gersina, Kleemann, Lucas, Mäser, Martin, Scholl-Bürgi, Sabine, Säly, Christoph, Mayer, Florian J., Sperone, Alexandra, Tanghe, Chloé, Gérard, Anne-Catherine, Pojskic, Lamija, Sisic, Ibrahim, Durak Nalbantic, Azra, Ejubovic, Malik, Jannes, Cinthia E., Pereira, Alexandre C., Krieger, Jose E., Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Baass, Alexis, Bergeron, Jean, Bernard, Sophie, Brisson, Diane, Cermakova, Lubomira, Couture, Patrick, Francis, Gordon A., Gaudet, Daniel, Hegele, Robert A., Khoury, Etienne, Mancini, G.B. John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Iatan, Iulia, Cuevas, Ada, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Benn, Marianne, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Dr Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed Abdoul, Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Christmann, Jutta, Dressel, Alexander, Fath, Felix, Ferraro, Chiara, Frenzke, Lydia, Gopon, Alica, Klein, Isabel, Pienkowska, Dominika, Sietmann, Tobias, Sonntag, Antonia, Adjan, Omar, Bahrmann, Philipp, Baessler, Andrea, Barkowski, Rasmus, Beckerdjian, Raffi, Berr, Christina, Birkenfeld, Andreas, Böll, Gereon, Carstensen, Avisha, Demuth, Ilya, Finkernagel, Holger, Gouni-Berthold, Ioanna, Hahmann, Harry, Hamerle, Michael, Halder, Julian, Heide, Maria, Julius, Ulrich, Kassner, Ursula, Katzmann, Julius L, Kirschbaum, Anja, Klose, Gerald, Könemann, Stephanie, König, Christel, König, Wolfgang, Krämer, Bernhard, Kuprat, Gerrit, Koschker, Ann-Cathrin, Kilic, Özlem, Lindenmeier, Gerd, Van de Loo, Iris, Lorenz, Babette, Lorenz, Elke, Löhr, Birgit, McChord, Johanna, Maslarska, Mariya, Methe, Heiko, Merkel, Martin, Moussaoui, Zineb, Müller-Kozarez, Irina, Olivier, Christoph B, Ong, Peter, Otte, Britta, Parhofer, Klaus, Partsch, Carl-Joachim, Paulus, Michael, Pehlivanli, Sinan, Pflederer, Tobias, Pusl, Thomas, Richter, Veronika, Rosner, Stefanie, Sanin, Veronika, Schäfer, Sebastian, Schäfer, Christoph, Schatz, Ulrike, Schirmer, Stephan, Schmidt, Christine, Seeger, Wolfgang, Sisovic, Snezna, Spens, Antje, Jablonski, Ksenija Stach, Stadelmann, Alexander, Steinhagen-Thiessen, Elisabeth, Stürzebecher, Paulina, Tafelmeier, Maria, Tillack, Dörthe, Tselmin, Sergey, Tünnemann-Tarr, Adrienn, Vogt, Anja, Beckerath, Jens von, Wilke, Andreas, Wolf, Ulrich, Zemmrich, Claudia, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Petkou, Ermioni, Milionis, Haralambos, Koulouri, Anastasia, Prodromiadou, Elisavet, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Altaey, Mays, Al-Jumaily, Khalid, Rasul, Dilshad, Abdalsahib, Ali Fawzi, Jabbar, Amer Abdl, Al-ageedi, Mohanad, Dhamin, Mohammed, AlFil, Sarmad, Khadhim, Foad, Miahy, Sabah, Agar, Ruth, Catapano, Alberico Luigi, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Piro, Salvatore, Suppressa, Patrizia, Meregalli, Giancarla, Borghi, Claudio, Muntoni, Sandro, Calabrò, Paolo, Cipollone, Francesco, Purrello, Francesco, Pujia, Arturo, Passaro, Angelina, Marcucci, Rossella, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, Josè Pablo, Parati, Gianfranco, Carubbi, Francesca, Iughetti, Lorenzo, Fortunato, Giuliana, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Cefalù, Angelo Baldassare, Biasucci, Giacomo, Zambon, Sabina, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, D'Erasmo, Laura, Federici, Massimo, Ben, Maria Del, Bartuli, Andrea, Giaccari, Andrea, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Matsuki, Kota, Hori, Mika, Ogura, Masatsune, Masuda, Daisaku, Kobayashi, Takuya, Nagahama, Kumiko, Al-Jarallah, Mohammed, Radovic, Mirjana, Lunegova, Olga, Bektasheva, Erkayim, Abilova, Saamay, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Meiere, Ruta, Skudrina, Gunda, Terauda, Elizabete, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Aliosaitiene, Urte, Kutkiene, Sandra, Abdul Kadir, Siti Hamimah Sheikh, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Abdul Hamid, Hasidah, Abdul Razak, Suraya, Al-Khateeb, Alyaa, Abd Muid, Suhaila, Abdul Rahman, Thuhairah, Kasim, Sazzli Shahlan, Radzi, Ahmad Bakhtiar Md, Ibrahim, Khairul Shafiq, Rosli, Marshima Mohd, Razali, Rafezah, Chua, Yung An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Aziz, Nazirul, Rosman, Azhari, Abdul Murad, NorAzian, Jalaludin, Mohd Amin, Abdul Latif, Ahmad Zubaidi, Azzopardi, C., Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Villa, Neftali E Antonio, Vazquez, Arsenio Vargas, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Rodriguez, Betsabel, Macías, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Herrera, Laura G. Gomez, Mendia, Luis E. Simental, Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Peña, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Cazares, Hector E. Arriaga, Gonzalez, Jesus R., Valencia, Carla V. Mendez, Padilla, Francisco G., Prado, Ramon Madriz, Ibarra, Manuel O. De los Rios, Villicaña, Ruy D. Arjona, Rivera, Karina J. Acevedo, Carrera, Ricardo Allende, Alvarez, Jose A., Martinez, Jose C. Amezcua, Bustillo, Manuel de los Reyes Barrera, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Andrade, Mario H. Figueroa, Ortega, Ashanty Flores, Alcala, Hector Garcia, de Leon, Laura E. Garcia, Guzman, Berenice Garcia, Garcia, Jose J. Garduño, Cuellar, Juan C. Garnica, Cruz, Jose R. Gomez, Garcia, Anell Hernandez, Almada, Jesus R. Holguin, Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Rodriguez, Alma B. Medrano, Oyervides, Jose C. Morales, Vazquez, Daniel I. Perez, Rodriguez, Eduardo A. Reyes, Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Talavera, Luis A. Valdez, Arroyo, Luis E. Vera, Carrillo, Eloy A. Zepeda, Stroes, Erik S, Defesche, J, Zuurbier, L, Reeskamp, L, Ibrahim, S, Roeters van Lennep, Jeanine, Wiegman, Albert, Isara, Alphonsus, Obaseki, Darlington E., Al-Waili, Khalid, Al-Zadjali, Fahad, Al-Zakwani, Ibrahim, Al-Kindi, Mohammed, Al-Mukhaini, Suad, Al-Barwani, Hamida, Rana, Asim, Shah, Lahore Saeed Ullah, Al-Nouri, Fahad, Starostecka, Ewa, Konopka, Agnieszka, Bielecka-Dabrowa, Agata, Lewek, Joanna, Sosnowska, Bozena, Gąsior, Mariusz, Dyrbuś, Krzysztof, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Chmara, Magdalena, Wasąg, Bartosz, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Medeiros, Ana Margarida, Alves, Ana Catarina, Silva, Francisco, Lobarinhas, Goreti, Palma, Isabel, de Moura, Jose Pereira, Rico, Miguel Toscano, Rato, Quitéria, Pais, Patrícia, Correia, Susana, Moldovan, Oana, Virtuoso, Maria João, Araujo, Francisco, Salgado, Jose Miguel, Colaço, Ines, Dumitrescu, Andreea, Lengher, Calin, Mosteoru, Svetlana, Meshkov, Alexey, Ershova, Alexandra, Rozhkova, Tatiana, Korneva, Victoria, Yu, Kuznetsova T., Zafiraki, Vitaliy, Voevoda, Mikhail, Gurevich, Victor, Duplyakov, Dmitry, Ragino, Yulia, Chubykina, Uliana, Shaposhnik, Igor, Alkaf, Fahmi, Khudari, Alia, Rwaili, Nawal, Al-Allaf, Faisal, Alghamdi, Mohammad, Batais, Mohammed A, Almigbal, Turky H, Kinsara, Abdulhalim, AlQudaimi, Ashraf Hammouda Ahmed, Awan, Zuhier, Elamin, Omer A, Altaradi, Hani, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Lam, Carolyn, Le, Tan Ju, Siang, Eric Lim Tien, Dissanayake, Sanjaya, I-Shing, Justin Tang, Shyong, Tai E, Jin, Terrance Chua Siang, Ting, Sharon Pek Li, Ming, Jeremy Hoe Kian, Drum, Chester Lee, Nastar, Fathima Ashna, Jia, Loh Wann, Ya, Natalie Koh Si, Jie, Marvin Chua Wei, Dalan, Rinkoo, Wei, Yong Quek, sian, Tiong Yee, Keong, Yeo Khung, Rong, Siau Kai, Jin, Darren Seah Ee, Ming, Ian Koh Jan, Chang, Tan Hong, Peng, Fabian Yap Kok, Vasanwala, Rashida Farhad, Raslova, Katarina, Balinth, Karin, Buganova, Ingrid, Fabryova, Lubomira, Kadurova, Michaela, Klabnik, Alexander, Kozárová, Miriam, Sirotiakova, Jana, Battelino, Tadej, Cevc, Matija, Debeljak, Marusa, Torkar, Ana Drole, Fras, Zlatko, Jug, Borut, Cugalj, Barbara Kern, Kovac, Jernej, Mlinaric, Matej, Sikonja, Jaka, Pilcher, Gillian Joan, Blom, D J, Wolmarans, K H, Brice, B C, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Isla, Leopoldo Pérez, Fuentes, Francisco, Badimon, Lina, Martin, François, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Chattranukulchai, Pairoj, Jiamjarasrungsi, Wiroj, Thongtang, Nuntakorn, Krittayaphong, Rungroj, Vathesatogkit, Prin, Sriphrapradang, Chutintorn, Phimphilai, Mattabhorn, Leelawattana, Rattana, Anthanont, Pimjai, Suraamornkul, Swangjit, Deerochanawong, Chaicharn, Senthong, Vichai, Torpongpun, Artit, Suteerayongprasert, Panuwat, Pengpong, Nawarat, Sathavarodom, Nattapol, Sunanta, Usanee, Porntharukchareon, Thachanun, Kiatpanabhikul, Phatharaporn, Kaewkrasaesin, Chatchon, Kongkit, Jaruwan, Umphonsathien, Mongkontida, Akbulut, Mehmet, Alici, Gökhan, Bayram, Fahri, Can, Levent Hürkan, Celik, Ahmet, Ceyhan, Ceyhun, Coskun, Fatma Yilmaz, Demir, Mesut, Demircan, Sabri, Dogan, Volkan, Durakoglugil, Emre, Dural, İbrahim Etem, Gedikli, Omer, Hacioglu, Aysa, Ildizli, Muge, Kilic, Salih, Kirilmaz, Bahadir, Kutlu, Merih, Oguz, Aytekin, Ozdogan, Oner, Onrat, Ersel, Ozer, Savas, Sabuncu, Tevfik, Sahin, Tayfun, Sivri, Fatih, Sonmez, Alper, Temizhan, Ahmet, Topcu, Selim, Tokgozoglu, Lale, Tuncez, Abdullah, Vural, Mirac, Yenercag, Mustafa, Yesilbursa, Dilek, Yigit, Zerrin, Yildirim, Aytul Belgi, Yildirir, Aylin, Yilmaz, Mehmet Birhan, Atallah, Bassam, Traina, Mahmoud, Sabbour, Hani, Abdul Hay, Dana, Luqman, Neama, Elfatih, Abubaker, Abdulrasheed, Arshad, Manla, Yosef, Kwok, See, DellOca, Nicolas, Alieva, Rano B., Fozilov, Khurshid G., Hoshimov, Shavkat U., Nizamov, Ulugbek I., Kan, Liliya E., Kim, Andrey R., Abdullaeva, Guzal J., Abdullaev, Alisher A., Do, Doan Loi, Nguyen, Mai Ngoc Thi, Kim, Ngoc Thanh, Le, Thanh Tung, Le, Hong An, and Ray, Kausik K.
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- 2024
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3. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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Dharmayat, Kanika Inamdar, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.
- Published
- 2024
- Full Text
- View/download PDF
4. Altered gut microbiome diversity and function in patients with propionic acidemia
- Author
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Tims, Sebastian, Marsaux, Cyril, Pinto, Alex, Daly, Anne, Karall, Daniela, Kuhn, Mirjam, Santra, Saikat, Roeselers, Guus, Knol, Jan, MacDonald, Anita, and Scholl-Bürgi, Sabine
- Published
- 2022
- Full Text
- View/download PDF
5. Familial hypercholesterolemia: A systematic review of modeling studies on screening interventions
- Author
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Jahn, Beate, Santamaria, Júlia, Dieplinger, Hans, Binder, Christoph J., Ebenbichler, Christoph, Scholl-Bürgi, Sabine, Conrads-Frank, Annette, Rochau, Ursula, Kühne, Felicitas, Stojkov, Igor, Todorovic, Jovan, James, Lyndon, and Siebert, Uwe
- Published
- 2022
- Full Text
- View/download PDF
6. Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
- Author
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Bösch, Florin, Landolt, Markus A., Baumgartner, Matthias R., Fernandez, Susana, Forny, Patrick, Gautschi, Matthias, Grünert, Sarah C., Häberle, Johannes, Horvath, Carolina, Karall, Daniela, Lampis, Danila, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Szinnai, Gabor, and Huemer, Martina
- Published
- 2022
- Full Text
- View/download PDF
7. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
- Author
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Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Lyons, Alexander R.M., Dharmayat, Kanika I., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid F., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Araujo, Francisco, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Benn, Marianne, Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Davletov, Kairat, Descamps, Olivier S., Durst, Ronen, Ezhov, Marat, Gaita, Dan, Genest, Jacques, Groselj, Urh, Harada-Shiba, Mariko, Holven, Kirsten B., Kayikcioglu, Meral, Khovidhunkit, Weerapan, Lalic, Katarina, Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lima-Martinez, Marcos M., Lin, Jie, Maher, Vincent, Marais, A. 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John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Cuevas, Ada, Asenjo, Sylvia, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed A., Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Angoulvant, Denis, Boccara, Franck, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di-Fillipo, Mathilde, Ducluzeau, Pierre H., Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, hankard, Regis, Inamo, Jocelyne, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnès, Pradignac, Alain, Rabes, Jean P., Rigalleau, Vincent, Sultan, Ariane, Schiele, François, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cécile, Ziegler, Olivier, Haack, Ira A., Schmidt, Nina, Dressel, Alexander, Klein, Isabel, Christmann, Jutta, Sonntag, Antonia, Stumpp, Christine, Boger, Diana, Biedermann, Dana, Usme, Monica M.N., Beil, F. Ulrich, Klose, Gerald, König, Christel, Gouni-Berthold, Ioanna, Otte, Britta, Böll, Gereon, Kirschbaum, Anja, Merke, Jürgen, Scholl, Johannes, Segiet, Thomas, Gebauer, Marco, Predica, Florentina, Mayer, Manfred, Leistikow, Frank, Füllgraf-Horst, Sabine, Müller, Cornelius, Schüler, Melanie, Wiener, Judith, Hein, Konrad, Baumgartner, Peter, Kopf, Stefan, Busch, Reinhold, Schömig, Michael, Matthias, Stephan, Allendorf-Ostwald, Nicole, Fink, Bruno, Böhm, Dieter, Jäkel, Alexander, Koschker, Ann-Cathrin, Schweizer, Rüdiger, Vogt, Anja, Parhofer, Klaus, König, Wolfgang, Reinhard, Wibke, Bäßler, Andrea, Stadelmann, Alexander, Schrader, Volker, Katzmann, Julius, Tarr, Adrienne, Steinhagen-Thiessen, Elisabeth, Kassner, Ursula, Paulsen, Gerret, Homberger, Jürgen, Zemmrich, Claudia, Seeger, Wolfgang, Biolik, Kathrin, Deiss, Dorothee, Richter, Corinna, Pantchechnikova, Elina, Dorn, Elena, Schatz, Ulrike, Julius, Ulrich, Spens, Antje, Wiesner, Tobias, Scholl, Michael, Rizos, Christos V., Sakkas, Nikolaos, Elisaf, Moses, Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Agapakis, Dimitrios, Kiouri, Estela, Antza, Christina, Katsiki, Niki, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi L., Shah, Swarup A.V., Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Altaey, Mays, Al-Jumaily, Khalid, Rasul, Dilshad, Abdalsahib, Ali F., Jabbar, Amer A., Al-ageedi, Mohanad, Agar, Ruth, Cohen, Hofit, Ellis, Avishay, Gavishv, Dov, Harats, Dror, Henkin, Yaacov, Knobler, Hila, Leavit, Leah, Leitersdorf, Eran, Rubinstein, Ardon, Schurr, Daniel, Shpitzen, Shoshi, Szalat, Auryan, Casula, Manuela, Zampoleri, Veronica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Sabbà, Carlo, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Purrello, Francesco, Pujia, Arturo, Passaro, Angelina, Marcucci, Rossella, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, Josè Pablo, Parati, Gianfranco, Carubbi, Francesca, Iughetti, Lorenzo, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Calabrò, Paolo, Averna, Maurizio, Biasucci, Giacomo, Zambon, Sabina, Roscini, Anna Rita, Trenti, Chiara, Arca, Marcello, Federici, Massimo, Del Ben, Maria, Bartuli, Andrea, Giaccari, Andrea, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Bonomo, Katia, Benso, Andrea, Biolo, Gianni, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Zenti, Maria Grazia, Matsuki, Kota, Hori, Mika, Ogura, Masatsune, Masuda, Daisaku, Kobayashi, Takuya, Nagahama, Kumiko, Al-Jarallah, Mohammed, Radovic, Mirjana, Lunegova, Olga, Bektasheva, Erkayim, Khodzhiboboev, Elyor, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Meiere, Ruta, Upena-RozeMicena, Arta, Terauda, Elizabete, Jambart, Selim, Khoury, Petra E., Elbitar, Sandy, Ayoub, Carine, Ghaleb, Youmna, Aliosaitiene, Urte, Kutkiene, Sandra, Kasim, Noor A.M., Nor, Noor S.M., Ramli, Anis S., Razak, Suraya A., Al-Khateeb, Alyaa, Kadir, Siti H.S.A., Muid, Suhaila A., Rahman, Thuhairah A., Kasim, Sazzli S., Radzi, Ahmad B.M., Ibrahim, Khairul S., Razali, Salmi, Ismail, Zaliha, Ghani, Rohana A., Hafidz, Muhammad I.A., Chua, Ang L., Rosli, Marshima M., Annamalai, Muthukkaruppan, Teh, Lay K., Razali, Rafezah, Chua, Yung A., Rosman, Azhari, Sanusi, Abdul R., Murad, Nor A.A., Jamal, A. Rahman A., Nazli, Sukma A., Razman, Aimi Z., Rosman, Norhidayah, Rahmat, Radzi, Hamzan, Nur S., Azzopardi, C., Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A.G., Villa, Neftali E.A., Vazquez, Arsenio V., Elias-Lopez, Daniel, Retana, Gustavo G., Rodriguez, Betsabel, Macías, Jose J.C., Zazueta, Alejandro R., Alvarado, Rocio M., Portano, Julieta D.M., Lopez, Humberto A., Sauque-Reyna, Leobardo, Herrera, Laura G.G., Mendia, Luis E.S., Aguilar, Humberto Garcia, Cooremans, Elizabeth R., Aparicio, Berenice P., Zubieta, Victoria M., Gonzalez, Perla A.C., Ferreira-Hermosillo, Aldo, Portilla, Nacu C., Dominguez, Guadalupe J., Garcia, Alinna Y.R., Cazares, Hector E.A., Gonzalez, Jesus R., Valencia, Carla V.M., Padilla, Francisco G., Prado, Ramon M., De los Rios Ibarra, Manuel O., Villicaña, Ruy D.A., Rivera, Karina J.A., Carrera, Ricardo A., Alvarez, Jose A., Martinez, Jose C.A., de los Reyes Barrera Bustillo, Manuel, Vargas, Gonzalo C., Chacon, Roberto C., Andrade, Mario H.F., Ortega, Ashanty F., Alcala, Hector G., de Leon, Laura E.G., Guzman, Berenice G., Garcia, Jose J.G., Cuellar, Juan C.G., Cruz, Jose R.G., Garcia, Anell Hernandez, Almada, Jesus R.H., Herrera, Ursulo J., Sobrevilla, Fabiola L., Rodriguez, Eduardo M., Sibaja, Cristina M., Rodriguez, Alma B.M., Oyervides, Jose C.M., Vazquez, Daniel I.P., Rodriguez, Eduardo A.R., Osorio, Ma L.R., Saucedo, Juan R., Tamayo, Margarita T., Talavera, Luis A.V., Arroyo, Luis E.V., Carrillo, Eloy A.Z., Isara, Alphonsus, Obaseki, Darlington E., Al-Waili, Khalid, Al-Zadjali, Fahad, Al-Zakwani, Ibrahim, Al-Kindi, Mohammed, Al-Mukhaini, Suad, Al-Barwani, Hamida, Rana, Asim, Shah, Lahore S.U., Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bartłomiejczyk, Marcin, Gąsior, Mariusz, Dyrbuś, Krzysztof, Jóźwiak, Jacek, Gruchała, Marcin, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Woś, Marlena, Michalska-Grzonkowska, Aleksandra, Medeiros, Ana M., Alves, Ana C., Silva, Francisco, Lobarinhas, Goreti, Palma, Isabel, de Moura, Jose P., Rico, Miguel T., Rato, Quitéria, Pais, Patrícia, Correia, Susana, Moldovan, Oana, Virtuoso, Maria J., Salgado, Jose M., Colaço, Ines, Dumitrescu, Andreea, Lengher, Calin, Mosteoru, Svetlana, Meshkov, Alexey, Ershova, Alexandra, Rozkova, Tatiana, Korneva, Victoria, Yu, Kuznetsova T., Zafiraki, Vitaliy, Voevoda, Mikhail, Gurevich, Victor, Duplyakov, Dmitry, Ragino, Yulia, Safarova, Maya, Shaposhnik, Igor, Alkaf, Fahmi, Khudari, Alia, Rwaili, Nawal, Al-Allaf, Faisal, Alghamdi, Mohammad, Batais, Mohammed A., Almigbal, Turky H., Kinsara, Abdulhalim, AlQudaimi, Ashraf H.A., Awan, Zuhier, Elamin, Omer A., Altaradi, Hani, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Stosic, Ljubica, Rasulic, Iva, Lalic, Nebojsa M., Lam, Carolyn, Le, Tan J., Siang, Eric L.T., Dissanayake, Sanjaya, I-Shing, Justin T., Shyong, Tai E., Jin, Terrance C.S., Balinth, Karin, Buganova, Ingrid, Fabryova, Lubomira, Kadurova, Michaela, Klabnik, Alexander, Kozárová, Miriam, Sirotiakova, Jana, Battelino, Tadej, Kovac, Jernej, Mlinaric, Matej, Sustar, Ursa, Podkrajsek, Katarina T., Fras, Zlatko, Jug, Borut, Cevc, Matija, Pilcher, Gillian J., Blom, D.J., Wolmarans, K.H., Brice, B.C., Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose L., de Isla, Leopoldo P., Fuentes, Francisco, Badimon, Lina, Martin, François, Lux, Angela, Chang, Nien-Tzu, Ganokroj, Poranee, Akbulut, Mehmet, Alici, Gökhan, Bayram, Fahri, Can, Levent H., Celik, Ahmet, Ceyhan, Ceyhun, Coskun, Fatma Y., Demir, Mesut, Demircan, Sabri, Dogan, Volkan, Durakoglugil, Emre, Dural, Ibrahim E., Gedikli, Omer, Hacioglu, Aysa, Ildizli, Muge, Kilic, Salih, Kirilmaz, Bahadir, Kutlu, Merih, Oguz, Aytekin, Ozdogan, Oner, Onrat, Ersel, Ozer, Savas, Sabuncu, Tevfik, Sahin, Tayfun, Sivri, Fatih, Sonmez, Alper, Temizhan, Ahmet, Topcu, Selim, Tuncez, Abdullah, Vural, Mirac, Yenercag, Mustafa, Yesilbursa, Dilek, Yigit, Zerrin, Yildirim, Aytul B., Yildirir, Aylin, Yilmaz, Mehmet B., Atallah, Bassam, Traina, Mahmoud, Sabbour, Hani, Hay, Dana A., Luqman, Neama, Elfatih, Abubaker, Abdulrasheed, Arshad, Kwok, See, Oca, Nicolas D., Reyes, Ximena, Alieva, Rano B., Kurbanov, Ravshanbek D., Hoshimov, Shavkat U., Nizamov, Ulugbek I., Ziyaeva, Adolat V., Abdullaeva, Guzal J., Do, Doan L., Nguyen, Mai N.T., Kim, Ngoc T., Le, Thanh T., Le, Hong A., Tokgozoglu, Lale, Catapano, Alberico L., and Ray, Kausik K.
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- 2021
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8. Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria
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Beghini, Marianna, Resch, Felix J., Möslinger, Dorothea, Konstantopoulou, Vassiliki, Karall, Daniela, Scholl-Bürgi, Sabine, Brunner-Krainz, Michaela, Plecko, Barbara, Spenger, Johannes, Kautzky-Willer, Alexandra, Scherer, Thomas, and Hufgard-Leitner, Miriam
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- 2021
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9. Galactokinase deficiency: lessons from the GalNet registry
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Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., and Berry, Gerard T.
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- 2021
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10. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
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Illsinger, Sabine, Korenke, G. Christoph, Boesch, Sylvia, Nocker, Michael, Karall, Daniela, Nuoffer, Jean M., Laugwitz, Lucia, Mayr, Johannes A., Scholl-Bürgi, Sabine, Freisinger, Peter, Kowald, Tobias, Kölker, Stefan, Prokisch, Holger, and Haack, Tobias B.
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- 2020
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11. The Genetic Landscape and Epidemiology of Phenylketonuria
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Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., and Blau, Nenad
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- 2020
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12. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
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van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L.K., and Derks, Terry G.J.
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- 2020
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13. Neugeborenenscreening auf angeborene Stoffwechselstörungen, zystische Fibrose und Endokrinopathien
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Zlamy, Manuela, Scholl-Bürgi, Sabine, Karall, Daniela, Konstantopoulou, Vassiliki, Papan, Cihan, editor, and Weber, Lutz T., editor
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- 2019
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14. Stoffwechselstörungen
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Zlamy, Manuela, Scholl-Bürgi, Sabine, Karall, Daniela, Papan, Cihan, editor, and Weber, Lutz T., editor
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- 2019
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15. The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders
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Zlamy, Manuela, Hofstätter, Justina, Albrecht, Ursula, Baumgartner, Sara, Haberlandt, Edda, Scholl-Bürgi, Sabine, Guntersweiler, Doris, Reinehr, Michael, Mihic-Probst, Daniela, and Karall, Daniela
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- 2019
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16. Variant-specific LDL-cholesterol patterns and risk of atherosclerotic cardiovascular disease in heterozygous FH: Insights from the Austrian FH-Registry
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Innerhofer, Reinhold, Ebenbichler, Christoph, Baumgartner-Kaut, Margot, Esterbauer, Harald, Fasching, Peter, Ferch, Moritz, Galli, Lukas, Greber-Platzer, Susanne, Grohs, Katharina, Harreiter, Jürgen, Karall, Daniela, Kleemann, Lucas, Klein, Dominic, Krychtiuk, Konstantin, Mäser, Martin, Rega-Kaun, Gersina, Scholl-Bürgi, Sabine, Schwaiger, Elisabeth, Speidl, Walter, Stulnig, Thomas, Stögerer-Lanzenberger, Michaela, Sunder-Plassmann, Raute, Toplak, Hermann, Widhalm, Kurt, Witsch-Baumgartner, Martina, Winhofer, Yvonne, Dieplinger, Johann, and Binder, Christoph
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- 2024
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17. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
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Zeltner, Nina A., Baumgartner, Matthias R., Bondarenko, Aljona, Ensenauer, Regina, Karall, Daniela, Kölker, Stefan, Mühlhausen, Chris, Scholl-Bürgi, Sabine, Thimm, Eva, Quitmann, Julia, Burgard, Peter, Landolt, Markus A., Huemer, Martina, Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor
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- 2017
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18. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
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Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor
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- 2017
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19. Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection
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West, Erin E., primary, Merle, Nicolas S., additional, Kamiński, Marcin M., additional, Palacios, Gustavo, additional, Kumar, Dhaneshwar, additional, Wang, Luopin, additional, Bibby, Jack A., additional, Overdahl, Kirsten, additional, Jarmusch, Alan K., additional, Freeley, Simon, additional, Lee, Duck-Yeon, additional, Thompson, J. Will, additional, Yu, Zu-Xi, additional, Taylor, Naomi, additional, Sitbon, Marc, additional, Green, Douglas R., additional, Bohrer, Andrea, additional, Mayer-Barber, Katrin D., additional, Afzali, Behdad, additional, Kazemian, Majid, additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Huemer, Martina, additional, and Kemper, Claudia, additional
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- 2023
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20. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
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Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., and Garcia-Cazorla, Àngels
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- 2016
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21. Low sodium status in cystic fibrosis—as assessed by calculating fractional Na+ excretion—is associated with decreased growth parameters
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Knepper, Christiane, Ellemunter, Helmut, Eder, Johannes, Niedermayr, Katharina, Haerter, Bettina, Hofer, Philipp, Scholl-Bürgi, Sabine, Müller, Thomas, and Heinz-Erian, Peter
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- 2016
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22. Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection
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West, Erin E; https://orcid.org/0000-0002-7103-8394, Merle, Nicolas S, Kamiński, Marcin M, Palacios, Gustavo, Kumar, Dhaneshwar, Wang, Luopin, Bibby, Jack A, Overdahl, Kirsten, Jarmusch, Alan K, Freeley, Simon, Lee, Duck-Yeon, Thompson, J Will, Yu, Zu-Xi, Taylor, Naomi, Sitbon, Marc, Green, Douglas R, Bohrer, Andrea, Mayer-Barber, Katrin D, Afzali, Behdad, Kazemian, Majid, Scholl-Buergi, Sabine, Karall, Daniela, Huemer, Martina; https://orcid.org/0000-0002-0590-678X, Kemper, Claudia, West, Erin E; https://orcid.org/0000-0002-7103-8394, Merle, Nicolas S, Kamiński, Marcin M, Palacios, Gustavo, Kumar, Dhaneshwar, Wang, Luopin, Bibby, Jack A, Overdahl, Kirsten, Jarmusch, Alan K, Freeley, Simon, Lee, Duck-Yeon, Thompson, J Will, Yu, Zu-Xi, Taylor, Naomi, Sitbon, Marc, Green, Douglas R, Bohrer, Andrea, Mayer-Barber, Katrin D, Afzali, Behdad, Kazemian, Majid, Scholl-Buergi, Sabine, Karall, Daniela, Huemer, Martina; https://orcid.org/0000-0002-0590-678X, and Kemper, Claudia
- Abstract
Arginase 1 (Arg1), the enzyme catalyzing the conversion of arginine to ornithine, is a hallmark of IL-10-producing immunoregulatory M2 macrophages. However, its expression in T cells is disputed. Here, we demonstrate that induction of Arg1 expression is a key feature of lung CD4+ T cells during mouse in vivo influenza infection. Conditional ablation of Arg1 in CD4+ T cells accelerated both virus-specific T helper 1 (Th1) effector responses and its resolution, resulting in efficient viral clearance and reduced lung pathology. Using unbiased transcriptomics and metabolomics, we found that Arg1-deficiency was distinct from Arg2-deficiency and caused altered glutamine metabolism. Rebalancing this perturbed glutamine flux normalized the cellular Th1 response. CD4+ T cells from rare ARG1-deficient patients or CRISPR-Cas9-mediated ARG1-deletion in healthy donor cells phenocopied the murine cellular phenotype. Collectively, CD4+ T cell-intrinsic Arg1 functions as an unexpected rheostat regulating the kinetics of the mammalian Th1 lifecycle with implications for Th1-associated tissue pathologies.
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- 2023
23. CD4 T cell intrinsic arginase 1 controls the kinetics of Th1 induction and contraction
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West, Erin E, primary, Merle, Nicolas S, additional, Kamiński, Marcin M, additional, Palacios, Gustavo, additional, Kumar, Dhaneshwar, additional, Wang, Luopin, additional, Overdahl, Kristen, additional, Jarmusch, Alan K, additional, Freeley, Simon, additional, Taylor, Naomi, additional, Sitbon, Marc, additional, Green, Douglas R, additional, Bohrer, Andrea, additional, Mayer-Barber, Katrin, additional, Afzali, Behdad, additional, Kazemian, Majid, additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Huemer, Martina, additional, and Kemper, Claudia, additional
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- 2023
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24. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
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Katler, Quinton S., primary, Stepien, Karolina M., additional, Paull, Nathan, additional, Patel, Sneh, additional, Adams, Michael, additional, Balci, Mehmet Cihan, additional, Berry, Gerard T., additional, Bosch, Annet M., additional, DeLaO, Angela, additional, Demirbas, Didem, additional, Edman, Julianna, additional, Ficicioglu, Can, additional, Goff, Melanie, additional, Hacker, Stephanie, additional, Knerr, Ina, additional, Lancaster, Kristen, additional, Li, Hong, additional, Mendelsohn, Bryce A., additional, Nichols, Brandi, additional, de Rezende Pinto, Wladimir Bocca Vieira, additional, Rocha, Júlio César, additional, Rubio‐Gozalbo, M. Estela, additional, Saad‐Naguib, Michael, additional, Scholl‐Buergi, Sabine, additional, Searcy, Sarah, additional, de Souza, Paulo Victor Sgobbi, additional, Wittenauer, Angela, additional, and Fridovich‐Keil, Judith L., additional
- Published
- 2022
- Full Text
- View/download PDF
25. Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection
- Author
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Neurauter, Gabriele, Scholl-Bürgi, Sabine, Haara, Astrid, Geisler, Simon, Mayersbach, Peter, Schennach, Harald, and Fuchs, Dietmar
- Published
- 2013
- Full Text
- View/download PDF
26. Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
- Author
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Zandl-Lang, Martina; https://orcid.org/0000-0003-0522-4372, Züllig, Thomas; https://orcid.org/0000-0002-8483-0962, Trötzmüller, Martin; https://orcid.org/0000-0003-0545-9892, Naegelin, Yvonne, Abela, Lucia, Wilken, Bernd, Scholl-Buergi, Sabine, Karall, Daniela, Kappos, Ludwig; https://orcid.org/0000-0003-4175-5509, Köfeler, Harald, Plecko, Barbara, Zandl-Lang, Martina; https://orcid.org/0000-0003-0522-4372, Züllig, Thomas; https://orcid.org/0000-0002-8483-0962, Trötzmüller, Martin; https://orcid.org/0000-0003-0545-9892, Naegelin, Yvonne, Abela, Lucia, Wilken, Bernd, Scholl-Buergi, Sabine, Karall, Daniela, Kappos, Ludwig; https://orcid.org/0000-0003-4175-5509, Köfeler, Harald, and Plecko, Barbara
- Abstract
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2). It is one of the most common causes of genetic mental retardation in girls, characterized by normal early psychomotor development, followed by severe neurologic regression. Hitherto, RTT lacks a specific biomarker, but altered lipid homeostasis has been found in RTT model mice as well as in RTT patients. We performed LC-MS/MS lipidomics analysis to investigate the cerebrospinal fluid (CSF) and plasma composition of patients with RTT for biochemical variations compared to healthy controls. In all seven RTT patients, we found decreased CSF cholesterol levels compared to age-matched controls (n = 13), whereas plasma cholesterol levels were within the normal range in all 13 RTT patients compared to 18 controls. Levels of phospholipid (PL) and sphingomyelin (SM) species were decreased in CSF of RTT patients, whereas the lipidomics profile of plasma samples was unaltered in RTT patients compared to healthy controls. This study shows that the CSF lipidomics profile is altered in RTT, which is the basis for future (functional) studies to validate selected lipid species as CSF biomarkers for RTT.
- Published
- 2022
27. Setting the pace: CD4 T cell-intrinsic Arginase 1 orchestrates Th1 induction and contraction
- Author
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West, Erin E, primary, Freeley, Simon, additional, Kaminski, Marcin M, additional, Merle, Nicolas S, additional, Veenbergen, Sharon, additional, Lee, Duck-Yeon, additional, St. John-Williams, Lisa, additional, Thompson, J. Will, additional, Green, Douglas R, additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Huemer, Martina, additional, and Kemper, Claudia, additional
- Published
- 2022
- Full Text
- View/download PDF
28. Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
- Author
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Zandl-Lang, Martina, primary, Züllig, Thomas, additional, Trötzmüller, Martin, additional, Naegelin, Yvonne, additional, Abela, Lucia, additional, Wilken, Bernd, additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Kappos, Ludwig, additional, Köfeler, Harald, additional, and Plecko, Barbara, additional
- Published
- 2022
- Full Text
- View/download PDF
29. Adrenocorticotropic Hormone versus Pulsatile Dexamethasone in the Treatment of Infantile Epilepsy Syndromes
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Haberlandt, Edda, Weger, Christine, Sigl, Sara Baumgartner, Rauchenzauner, Markus, Scholl-Bürgi, Sabine, Rostásy, Kevin, and Karall, Daniela
- Published
- 2010
- Full Text
- View/download PDF
30. A NOVEL THERAPEUTIC APPROACH FOR LPIN1 MUTATION–ASSOCIATED RHABDOMYOLYSIS—THE AUSTRIAN EXPERIENCE
- Author
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PICHLER, KARIN, SCHOLL-BUERGI, SABINE, BIRNBACHER, ROBERT, FREILINGER, MICHAEL, STRAUB, SIMON, BRUNNER, JÜRGEN, ZSCHOCKE, JOHANNES, BITTNER, REGINALD E., and KARALL, DANIELA
- Published
- 2015
- Full Text
- View/download PDF
31. Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet
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Haberlandt, Edda, Karall, Daniela, Jud, Veronika, Baumgartner, Sara Sigl, Zotter, Sibylle, Rostasy, Kevin, Baumann, Matthias, and Scholl-Buergi, Sabine
- Published
- 2014
- Full Text
- View/download PDF
32. Prolonged QTc Intervals and Decreased Left Ventricular Contractility in Patients with Propionic Acidemia
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Baumgartner, Daniela, Scholl-Bürgi, Sabine, Sass, Jörn Oliver, Sperl, Wolfgang, Schweigmann, Ulrich, Stein, Jörg-Ingolf, and Karall, Daniela
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- 2007
- Full Text
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33. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
- Author
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Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, van der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, and Crow, Yanick J.
- Published
- 2007
- Full Text
- View/download PDF
34. Faecal calprotectin indicates intestinal inflammation in COVID-19
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Effenberger, Maria, primary, Grabherr, Felix, additional, Mayr, Lisa, additional, Schwaerzler, Julian, additional, Nairz, Manfred, additional, Seifert, Markus, additional, Hilbe, Richard, additional, Seiwald, Stefanie, additional, Scholl-Buergi, Sabine, additional, Fritsche, Gernot, additional, Bellmann-Weiler, Rosa, additional, Weiss, Günter, additional, Müller, Thomas, additional, Adolph, Timon Erik, additional, and Tilg, Herbert, additional
- Published
- 2020
- Full Text
- View/download PDF
35. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
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Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., and Morava, Eva
- Published
- 2018
- Full Text
- View/download PDF
36. Gastric lactobezoar - a rare disorder?
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Heinz-Erian Peter, Gassner Ingmar, Klein-Franke Andreas, Jud Veronika, Trawoeger Rudolf, Niederwanger Christian, Mueller Thomas, Meister Bernhard, and Scholl-Buergi Sabine
- Subjects
gastric lactobezoar ,formula preparation ,acute abdomen ,dehydration ,immature gastrointestinal functions ,underdiagnosed entity ,conservative management ,Medicine - Abstract
Abstract Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first description in 1959). While most patients were described 1975-1985 only 26 children have been published since 1986. Clinically, gastric lactobezoars frequently manifest as acute abdomen with abdominal distension (61.0% of 96 patients), vomiting (54.2%), diarrhea (21.9%), and/or a palpable abdominal mass (19.8%). Respiratory (23.0%) and cardiocirculatory (16.7%) symptoms are not uncommon. The pathogenesis of lactobezoar formation is multifactorial: exogenous influences such as high casein content (54.2%), medium chain triglycerides (54.2%) or enhanced caloric density (65.6%) of infant milk as well as endogenous factors including immature gastrointestinal functions (66.0%), dehydration (27.5%) and many other mechanisms have been suggested. Diagnosis is easy if the potential presence of a gastric lactobezoar is thought of, and is based on a history of inappropriate milk feeding, signs of acute abdomen and characteristic features of diagnostic imaging. Previously, plain and/or air-, clear fluid- or opaque contrast medium radiography techniques were used to demonstrate a mass free-floating in the lumen of the stomach. This feature differentiates a gastric lactobezoar from intussusception or an abdominal neoplasm. Currently, abdominal ultrasound, showing highly echogenic intrabezoaric air trapping, is the diagnostic method of choice. However, identifying a gastric lactobezoar requires an investigator experienced in gastrointestinal problems of infancy as can be appreciated from the results of our review which show that in not even a single patient gastric lactobezoar was initially considered as a possible differential diagnosis. Furthermore, in over 30% of plain radiographs reported, diagnosis was initially missed although a lactobezoar was clearly demonstrable on repeat evaluation of the same X-ray films. Enhanced diagnostic sensitivity would be most rewarding since management consisting of cessation of oral feedings combined with administration of intravenous fluids and gastric lavage is easy and resolves over 85% of gastric lactobezoars. In conclusion, gastric lactobezoar is a disorder of unknown prevalence and is nowadays very rarely published, possibly because of inadequate diagnostic sensitivity and/or not yet identified but beneficial modifications of patient management.
- Published
- 2012
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- View/download PDF
37. You are what you eat: CD46 regulated amino acid usage dictates T cell function
- Author
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West, Erin E, primary, Freeley, Simon, additional, Kaminski, Marcin M, additional, Veenbergen, Sharon, additional, Lee, Duck-Yeon, additional, St. John-Williams, Lisa, additional, Thompson, J. Will, additional, Green, Douglas R., additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Huemer, Martina, additional, and Kemper, Claudia, additional
- Published
- 2019
- Full Text
- View/download PDF
38. The diagnosis and management of patients with idiopathic osteolysis
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Hofstaetter Jochen G, Maurer Kathrin, Biedermann Rainer, Scholl-Buergi Sabine, Al Kaissi Ali, Klaushofer Klaus, and Grill Franz
- Subjects
Gorham-Stout disease ,Angiomatosis ,Nephropathy ,Winchester syndrome ,Histology ,Genetics ,3-Methylcrontonyl CoA Carboxylase deficiency ,Pediatrics ,RJ1-570 ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.
- Published
- 2011
- Full Text
- View/download PDF
39. You are what you eat: CD46 regulated amino acid usage dictates T cell function
- Author
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West, Erin E., primary, Freeley, Simon, additional, Veenbergen, Sharon, additional, Lee, Duck-Yeon, additional, St. John-Williams, Lisa, additional, Thompson, J. Will, additional, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, Huemer, Martina, additional, and Kemper, Claudia, additional
- Published
- 2018
- Full Text
- View/download PDF
40. P 256. Use of Ketogenic Diets in patients with Epilepsy and Metabolic Disorders in Germany, Austria, and Switzerland
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Marina, Adela Della, additional, Leiendecker, Bärbel, additional, Wiemer-Kruel, Adelheid, additional, Makowski, Christine, additional, Wohlrab, Gabriele, additional, Hofmann-Peters, Anne, additional, Scholl-Buergi, Sabine, additional, Stüve, Burkhard, additional, Assmann, Birgit, additional, von Stüpnagel, Celina, additional, Hartmann, Hans, additional, Hethey, Sven, additional, Classen, Georg, additional, Spiegler, Juliane, additional, Kröll-Seger, Judith, additional, Poggenburg, Imke, additional, Panzer, Axel, additional, Gross, Stephanie, additional, Och, Ulrike, additional, Klepper, Jörg, additional, and Schara, Ulrike, additional
- Published
- 2018
- Full Text
- View/download PDF
41. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
- Author
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Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, and Ghezzi, Daniele
- Published
- 2015
- Full Text
- View/download PDF
42. Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery
- Author
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Hagenbuchner, Judith, primary, Scholl-Buergi, Sabine, additional, Karall, Daniela, additional, and Ausserlechner, Michael J., additional
- Published
- 2018
- Full Text
- View/download PDF
43. Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
- Author
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Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, FC, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Buergi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, and Blom, Henk J.
- Subjects
EXPRESSION ,PERSISTENT HYPERMETHIONINEMIA ,BLOOD-BRAIN-BARRIER ,Research Support, Non-U.S. Gov't ,Review ,Research Support, N.I.H., Intramural ,S-ADENOSYLMETHIONINE SYNTHETASE ,DOMINANT INHERITANCE ,CEREBROSPINAL-FLUID ,PLASMA TOTAL HOMOCYSTEINE ,Journal Article ,METHIONINE ADENOSYLTRANSFERASE-I/III ,MESSENGER-RNA ,MUTATION - Abstract
Background: This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine beta-synthase activity. Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. Some but not all, such individuals have manifested demyelination or other CNS abnormalities. Purpose of the study: The goals of the present effort have been to determine the frequency of such abnormalities, to find how best to predict whether they will occur, and to evaluate the outcomes of the variety of treatment regimens that have been used. Data have been gathered for 64 patients, of whom 32 have some evidence of CNS abnormalities (based mainly on MRI findings), and 32 do not have such evidence. Results and Discussion: The results show that mean plasma methionine concentrations provide the best indication of the group into which a given patient will fall: those with means of 800 mu M or higher usually have evidence of CNS abnormalities, whereas those with lower means usually do not. Data are reported for individual patients for MAT1A genotypes, plasma methionine, total homocysteine (tHcy), and AdoMet concentrations, liver function studies, results of 15 pregnancies, and the outcomes of dietary methionine restriction and/or AdoMet supplementation. Possible pathophysiological mechanisms that might contribute to CNS damage are discussed, and tentative suggestions are put forth as to optimal management.
- Published
- 2015
44. Abdominal Pain and Constipation
- Author
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Härter, Bettina and Scholl-Bürgi, Sabine
- Published
- 2019
- Full Text
- View/download PDF
45. Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria – a 10-year single-center experience
- Author
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Pichler, Karin, primary, Michel, Miriam, additional, Zlamy, Manuela, additional, Scholl-Buergi, Sabine, additional, Ralser, Elisabeth, additional, Jörg-Streller, Monika, additional, and Karall, Daniela, additional
- Published
- 2017
- Full Text
- View/download PDF
46. Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
- Author
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Fantur, Michaela, Karall, Daniela, Scholl-Buergi, Sabine, Häberle, Johannes, Rauchenzauner, Markus, and Fruehwirth, Martin
- Published
- 2013
- Full Text
- View/download PDF
47. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
- Author
-
MDL patientenzorg, Child Health, Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, FC, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Buergi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, Blom, Henk J., MDL patientenzorg, Child Health, Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, FC, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Buergi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, and Blom, Henk J.
- Published
- 2015
48. Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet
- Author
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Karall, Daniela, primary, Jud, Veronika, primary, Baumgartner, Sara, primary, Zotter, Sibylle, primary, Rostasy, Kevin, primary, Baumann, Matthias, primary, Scholl-Buergi, Sabine, primary, and Haberlandt, Edda, additional
- Published
- 2013
- Full Text
- View/download PDF
49. The diagnosis and management of patients with idiopathic osteolysis
- Author
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Al Kaissi, Ali, primary, Scholl-Buergi, Sabine, additional, Biedermann, Rainer, additional, Maurer, Kathrin, additional, Hofstaetter, Jochen G, additional, Klaushofer, Klaus, additional, and Grill, Franz, additional
- Published
- 2011
- Full Text
- View/download PDF
50. Disintegration of Large Gastric Lactobezoars by N-acetylcysteine
- Author
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Heinz-Erian, Peter, primary, Klein-Franke, Andreas, additional, Gassner, Ingmar, additional, Kropshofer, Gabriele, additional, Salvador, Christina, additional, Meister, Bernhard, additional, Müller, Thomas, additional, and Scholl-Buergi, Sabine, additional
- Published
- 2010
- Full Text
- View/download PDF
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